Germline mutations of the gene encoding bone morphogenetic protein receptor 1A in juvenile polyposis

By J. Howe, J. Bair, M. Sayed, Mary E. Anderson, F. Mitros, G. Petersen, Victor E. Velculescu, Giovanni Traverso, Bert Vogelstein. Nature Genetics, 2001

647 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Pathology and Forensic Medicine

View Paper: https://www.semanticscholar.org/paper/39d389a7156aa698d14a61510903554fd2d592e6

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In Genetics

1. Hans Clevers
2. A. Gregorieff
3. L. Coin
4. Stefan Schreiber
5. Thomas A. Down
6. Nick Barker
7. R. Nusse
8. Pengfei Lu

In Molecular Biology

1. Hans Clevers
2. A. Gregorieff
3. L. Coin
4. Stefan Schreiber
5. Thomas A. Down
6. K. Miyazono
7. Mhairi Marshall
8. Ian Tomlinson

In Pathology and Forensic Medicine

1. A. Gregorieff
2. Hans Clevers

Citations in the corpus

• Meta-analysis of genome-wide association data identifies four new susceptibility loci for colorectal cancer (2008, background): “Intriguingly, inactivating mutations in the BMP receptor subunit BMPR1A are one cause of the rare juvenile polyposis syndrom”
• A CENSUS OF HUMAN CANCER GENES (2004, background): “cgi?l=657"> BMPR1A , which are all inactivated by mutation”
• BMP receptor signaling: transcriptional targets, regulation of signals, and signaling cross-talk. (2005, background): “Mutations in the BMPR-II gene have been found in some patients with familial primary pulmonary hypertension (PPH) [7,8], and those in the ALK-3 gene have been found in some patients with juvenile polyposis [9].”
• The intestinal crypt, a prototype stem cell compartment. (2013, background): “De novo crypt formation also occurs in juvenile polyposis patients, the majority of whom carry germline mutations in one of the various components of the BMPsignaling pathway (Howe et al., 2001; Howe et al., 1998; Zhou et al., 2001).”
• PTEN: One Gene, Many Syndromes (2003, background): “…if BMPR1A (MIM# 601299), on 10q22, encoding a bone morphogenic protein receptor belonging to the TGF-B receptor superfamily, and which is a susceptibility gene for juvenile polyposis syndrome [Eng, 2001; Howe et al., 2001], might also be a rare susceptibility gene for CS [Zhou et al., 2001b].”
• Wnt signaling in the intestinal epithelium: from endoderm to cancer. (2005, background): “Patients harboring mutations in BMP GENES & DEVELOPMENT 883 signaling components suffer from juvenile polyposis syndrome (JPS), which is characterized by the formation of hamartomatous polyps throughout the gastrointestinal tract (Howe et al. 2001, 2004; Zhou et al. 2001).”